Canonical Allele Identifier: CA404328401

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 446943
• ClinVar RCV Id: RCV000518411 ; RCV001572915
• dbSNP Id: rs1442777428
• gnomAD v2: 19-13318596-C-T
• gnomAD v3: 19-13207782-C-T
• gnomAD v4: 19-13207782-C-T
• MyVariant Identifiers: chr19:g.13318596C>T (hg19) ; chr19:g.13207782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13207782C>T , CM000681.2:g.13207782C>T	GRCh38
NC_000019.9:g.13318596C>T , CM000681.1:g.13318596C>T	GRCh37
NC_000019.8:g.13179596C>T	NCBI36
NG_011569.1:g.303679G>A , LRG_7:g.303679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.7052G>A MANE Select	ENSP00000353362.5:p.Gly2351Glu
ENST00000573710.7:c.7058G>A	ENSP00000460092.3:p.Gly2353Glu
ENST00000585802.6:c.2177G>A	ENSP00000465598.2:p.Gly726Glu
ENST00000635727.1:c.7055G>A	ENSP00000490001.1:p.Gly2352Glu
ENST00000635895.1:c.*264G>A	ENSP00000490323.1:n.*264G>A
ENST00000636012.1:c.7019G>A	ENSP00000490223.1:p.Gly2340Glu
ENST00000636389.1:c.*138G>A	ENSP00000489992.1:n.*138G>A
ENST00000637276.1:c.7014G>A	ENSP00000489777.1:n.7014G>A
ENST00000637432.1:c.*264G>A	ENSP00000490617.1:n.*264G>A
ENST00000637736.1:c.6914G>A	ENSP00000489861.1:p.Gly2305Glu
ENST00000637769.1:c.7055G>A	ENSP00000489778.1:p.Gly2352Glu
ENST00000638009.2:c.*264G>A	ENSP00000489913.1:n.*264G>A
ENST00000638029.1:c.7070G>A	ENSP00000489829.1:p.Gly2357Glu
ENST00000360228.9:c.7052G>A	ENSP00000353362.5:p.Gly2351Glu
ENST00000573710.6:c.*264G>A	ENSP00000460092.2:n.*264G>A
ENST00000585802.5:c.3074G>A	ENSP00000465598.1:p.Gly1025Glu
ENST00000587525.5:c.2477G>A	ENSP00000467729.1:p.Gly826Glu
ENST00000614285.4:c.7070G>A	ENSP00000479983.1:p.Gly2357Glu
NM_000068.3:c.*264G>A	NP_000059.3:n.*264G>A
NM_001127221.1:c.*264G>A , LRG_7t1:c.*264G>A	NP_001120693.1:n.*264G>A
NM_001127222.1:c.7052G>A	NP_001120694.1:p.Gly2351Glu
NM_001174080.1:c.*264G>A	NP_001167551.1:n.*264G>A
NM_023035.2:c.7070G>A	NP_075461.2:p.Gly2357Glu
NM_000068.4:c.*264G>A	NP_000059.3:n.*264G>A
NM_001127222.2:c.7052G>A MANE Select	NP_001120694.1:p.Gly2351Glu
NM_001174080.2:c.*264G>A	NP_001167551.1:n.*264G>A
NM_023035.3:c.7070G>A	NP_075461.2:p.Gly2357Glu
NM_001127221.2:c.*264G>A	NP_001120693.1:n.*264G>A